STOX1 storkhead box 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STOX1provided by HGNC
Official Full Name: storkhead box 1provided by HGNC
Primary source: HGNC:HGNC:23508
See related: Ensembl:ENSG00000165730 MIM:609397; AllianceGenome:HGNC:23508
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C10orf24
Summary: Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including cellular response to nitrosative stress; positive regulation of mitotic cell cycle phase transition; and regulation of macromolecule metabolic process. Located in centrosome; cytosol; and nuclear lumen. Implicated in pre-eclampsia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in brain (RPKM 2.8), fat (RPKM 2.4) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (68827531..68895432)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (69696680..69764246)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (70587288..70655188)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

STOX1 promotor region -922 T > C polymorphism is associated with Early-Onset preeclampsia.
Title: STOX1 promotor region -922 T > C polymorphism is associated with Early-Onset preeclampsia.
Modeling Preeclampsia In Vitro: Polymorphic Variants of STOX1-A/B Genes Can Downregulate CD24 in Trophoblast Cell Lines.
Title: Modeling Preeclampsia In Vitro: Polymorphic Variants of STOX1-A/B Genes Can Downregulate CD24 in Trophoblast Cell Lines.
Functional Evaluation of STOX1 (STORKHEAD-BOX PROTEIN 1) in Placentation, Preeclampsia, and Preterm Birth.
Title: Functional Evaluation of STOX1 (STORKHEAD-BOX PROTEIN 1) in Placentation, Preeclampsia, and Preterm Birth.
Investigation of the STOX1 polymorphism on lumbar disc herniation.
Title: Investigation of the STOX1 polymorphism on lumbar disc herniation.
circ-ZUFSP regulates trophoblasts migration and invasion through sponging miR-203 to regulate STOX1 expression.
Title: circ-ZUFSP regulates trophoblasts migration and invasion through sponging miR-203 to regulate STOX1 expression.
STOX1 gene single nucleotide polymorphism is associated with early-onset preeclampsia.
Title: STOX1 gene Y153H polymorphism is associated with early-onset preeclampsia in Turkish population.
STOX1 protein in early onset group, late onset group and control group were 0.78+/-0.04,0.59+/-0.020 and 0.54+/-0.018 respectively, which is higher in early onset group than that in late onset group(P<0.05)
Title: [Correlation between the expression of STOX1 in placenta of patients with early onset preeclampsia].
expressions of STOX1 is gradually increasing along with the normal pregnancy progression
Title: [Expression and significance of STOX1 in villi and placenta at different stages of normal gestation].
The STOX1 mice could help to better understand the endothelial dysfunction in the context of preeclampsia, and guide the search for efficient therapies able to protect the maternal endothelium during the disease and its aftermath.
Title: Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia.
Transcription factor STOX1A and its target gene, CNTNAP2, are potentially involved in the etiology of Alzheimer's disease.
Title: Direct downregulation of CNTNAP2 by STOX1A is associated with Alzheimer's disease.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Preeclampsia/eclampsia 4 MedGen: C1836255 OMIM: 609404 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-52582 (e-PCR)
- UniSTS:57088

G59359 (e-PCR)
- UniSTS:136524

WI-18142 (e-PCR)
- UniSTS:77645

SHGC-147108 (e-PCR)
- UniSTS:172748

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nitrosative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of G2/M transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cyclin-dependent protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of otic vesicle morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-threonine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial DNA metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: storkhead-box protein 1

Names: winged-helix domain-containing protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012975.2 RefSeqGene

Range

4995..70524

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130159.3 → NP_001123631.1 storkhead-box protein 1 isoform b

See identical proteins and their annotated locations for NP_001123631.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate donor splice site at the penultimate coding exon compared to variant 1, which results in a frame-shift, and a shorter isoform (b) with a distinct C-terminus compared to isoform a.

Source sequence(s)

AL391539, AY842015, BC140011

Consensus CDS

CCDS44417.1

UniProtKB/Swiss-Prot

Q6ZVD7

Related

ENSP00000382118.4, ENST00000399165.8

Conserved Domains (1) summary

pfam10264
Location:112 → 188

Stork_head; Winged helix Storkhead-box1 domain
NM_001130160.3 → NP_001123632.1 storkhead-box protein 1 isoform c

See identical proteins and their annotated locations for NP_001123632.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) is missing a coding exon at the 3' end compared to variant 1, which results in a frame-shift, and a shorter isoform (c) with a distinct C-terminus compared to isoform a.

Source sequence(s)

AL391539, AY842016, BC140011

Consensus CDS

CCDS44416.1

UniProtKB/Swiss-Prot

Q6ZVD7

Related

ENSP00000382115.2, ENST00000399162.2

Conserved Domains (1) summary

pfam10264
Location:112 → 155

Stork_head; Winged helix Storkhead-box1 domain
NM_001130161.4 → NP_001123633.1 storkhead-box protein 1 isoform a

See identical proteins and their annotated locations for NP_001123633.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AL391539, AY842017, BC140011

Consensus CDS

CCDS41535.1

UniProtKB/Swiss-Prot

A2A3Q9, A5D6Y7, B0QZA4, B0QZA5, B0QZA6, Q4F8Q6, Q5I946, Q5I947, Q5I948, Q5VX38, Q5VX39, Q6ZRY3, Q6ZVD7, Q96LR3, Q96LS0

UniProtKB/TrEMBL

A0A2R8Y5I4

Related

ENSP00000382121.4, ENST00000399169.8

Conserved Domains (1) summary

pfam10264
Location:112 → 188

Stork_head; Winged helix Storkhead-box1 domain
NM_152709.5 → NP_689922.3 storkhead-box protein 1 isoform a

See identical proteins and their annotated locations for NP_689922.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 encode the same isoform.

Source sequence(s)

AL391539, AY842014, BC140011

Consensus CDS

CCDS41535.1

UniProtKB/Swiss-Prot

A2A3Q9, A5D6Y7, B0QZA4, B0QZA5, B0QZA6, Q4F8Q6, Q5I946, Q5I947, Q5I948, Q5VX38, Q5VX39, Q6ZRY3, Q6ZVD7, Q96LR3, Q96LS0

UniProtKB/TrEMBL

A0A2R8Y5I4

Related

ENSP00000298596.6, ENST00000298596.11

Conserved Domains (1) summary

pfam10264
Location:112 → 188

Stork_head; Winged helix Storkhead-box1 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

68827531..68895432

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011539454.3 → XP_011537756.1 storkhead-box protein 1 isoform X1

Conserved Domains (1) summary

pfam10264
Location:2 → 78

Stork_head; Winged helix Storkhead-box1 domain

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

69696680..69764246

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001130162.2: Suppressed sequence

Description

NM_001130162.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.